A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791920



Internal ID19182176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189880922..190044201hg38UCSC Ensembl
Innerchr4:190802077..190965356hg19UCSC Ensembl
Innerchr4:191039071..191202350hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38163280
hg19163280
hg18163280
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894102
Supporting Variants
Samples
Known GenesFRG1, FRG2, LOC100288255, LOC283788
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791920
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer